What is Ataxia-telangiectasia?
Ataxia-telangiectasia (AT) is a rare, inherited disease that affects several organs and systems in the body, including the immune and the nervous systems. Most notably, it causes progressive degeneration of the cerebellum, the part of the brain that controls movement and speech. Symptoms develop in early childhood. The most serious complications include cancer (typically leukemia or lymphoma), which develops in about 20 percent of children with A-T, and recurrent infections due to a malfunctioning immune system.
Symptoms
- Uncoordinated movements (ataxia)
- Poor balance
- Slurred speech
- Recurrent respiratory infections caused by immunodeficiency
- Spider veins (telangiectasias) on the skin and eyes
- Delayed physical growth and sexual development
- Diabetes
Diagnosis
- Physical exam
- Laboratory tests, including the fetal protein alpha-fetoprotein, which remains elevated after birth in people with A-T and several other conditions.
Treatment
There is no cure for A-T. Treatment involves managing and relieving the symptoms. Physical therapy and speech therapy are often recommended. Injections with gamma-globulin to strengthen the immune system may be prescribed. Children with the disease usually die in their teens or 20s.
When to Call for Help
If your child develops any of the above symptoms, talk to your pediatrician.